Property Summary

NCBI Gene PubMed Count 112
PubMed Score 117.22
PubTator Score 117.90

Knowledge Summary

Patent

No data available

TINX Plot

  Disease Sources (6)

Disease Target Count P-value
lung carcinoma 2844 5.11593338496142E-46
psoriasis 6685 3.36499649947051E-39
posterior fossa group A ependymoma 1511 1.23172201460578E-16
Breast cancer 3099 3.77294159426649E-16
colon cancer 1475 1.77533657865014E-9
pituitary cancer 1972 4.04512096389472E-8
oligodendroglioma 2849 3.0213305363653E-6
medulloblastoma 1524 3.69113832895147E-6
ovarian cancer 8492 3.36218691734928E-5
medulloblastoma, large-cell 6234 9.17884086125401E-5
pilocytic astrocytoma 3086 1.05390665652675E-4
atypical teratoid / rhabdoid tumor 4369 4.86959102726661E-4
Pick disease 1893 5.48057778797843E-4
pediatric high grade glioma 2712 6.46641859717644E-4
glioblastoma 5572 0.00101714273926794
nasopharyngeal carcinoma 1056 0.0116299885367392
intraductal papillary-mucinous carcinoma (IPMC) 2988 0.025492864829523
primitive neuroectodermal tumor 3031 0.0262530652221134
astrocytoma 1493 0.0264222597677315
Alzheimer's disease 644 0.0264247599008036
subependymal giant cell astrocytoma 2287 0.0296164270818109
Disease Target Count Z-score Confidence
Carcinoma 2147 0.0 1.0
Kidney cancer 121 0.0 1.0
Disease Target Count
PITT-HOPKINS-LIKE SYNDROME 2 2

Synonym

Accession Q9ULB1 A7KRL9 O60323 Q53TJ9 Q53TQ1 Q5HYI0 Q9C079 Q9C080 Q9C081 Q9H3M2 Q9UDM6
Symbols PTHSL2
SCZD17
Hs.22998

Gene

  Ortholog (5)

Species Source
Mouse OMA EggNOG Inparanoid
Horse OMA EggNOG Inparanoid
Chicken OMA EggNOG Inparanoid
Zebrafish OMA Inparanoid
C. elegans OMA EggNOG Inparanoid

Gene RIF (77)

PMID Text
26785044 NRXN1 has an affinity for binding to LRRTM2 in hippocampal synapses.
26590955 Atypical hand-foot-genital syndrome and developmental delay due to de novo mutations in HOXA13 and NRXN1
26410934 The role of NRXN1 in in paranoid schizophrenia development in Russians.
26279266 heterozygous inactivation of NRXN1 directly impairs synaptic function in human neurons.
26078884 Results indicate that the neurexin and neuroligin synaptic complex is intrinsically involved in the regulation of DISC1 function, thus contributing to a better understanding of the pathology of schizophrenia.
25943950 Study suggests a role of rare missense variants at NRXN1 and AKAP9 in schizophrenia susceptibility, probably related to alteration of the excitatory/inhibitory synaptic balance, deserving further investigation
25710691 The phenotype found in the microdeletions of alpha exons of the NRXN1 gene is clearly distinguishable from the one found in the microdeletions of beta exons, with macrocephaly, epilepsy and mental retardation.
25486015 A further patient with a biallelic homozygous deletion in NRXN1 is reported here.
25450229 The rare variants in NRXN1 were significantly associated with smoking status.
25399301 Increasing expression of TGF-beta1 protein, decreasing expressions of Ghrelin, Neurexin, and Neuroligin proteins can induce the loss or dysfunction of ganglion cells in distal intestinal canal
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AA Sequence

MGTALLQRGGCFLLCLSLLLLGCWAELGSGLEFPGAEGQWTRFPKWNACCESEMSFQLKTRSARGLVLYF      1 - 70
DDEGFCDFLELILTRGGRLQLSFSIFCAEPATLLADTPVNDGAWHSVRIRRQFRNTTLFIDQVEAKWVEV     71 - 140
KSKRRDMTVFSGLFVGGLPPELRAAALKLTLASVREREPFKGWIRDVRVNSSQVLPVDSGEVKLDDEPPN    141 - 210
SGGGSPCEAGEEGEGGVCLNGGVCSVVDDQAVCDCSRTGFRGKDCSQEDNNVEGLAHLMMGDQGKSKGKE    211 - 280
EYIATFKGSEYFCYDLSQNPIQSSSDEITLSFKTLQRNGLMLHTGKSADYVNLALKNGAVSLVINLGSGA    281 - 350
FEALVEPVNGKFNDNAWHDVKVTRNLRQHSGIGHAMVTISVDGILTTTGYTQEDYTMLGSDDFFYVGGSP    351 - 420
STADLPGSPVSNNFMGCLKEVVYKNNDVRLELSRLAKQGDPKMKIHGVVAFKCENVATLDPITFETPESF    421 - 490
ISLPKWNAKKTGSISFDFRTTEPNGLILFSHGKPRHQKDAKHPQMIKVDFFAIEMLDGHLYLLLDMGSGT    491 - 560
IKIKALLKKVNDGEWYHVDFQRDGRSGTISVNTLRTPYTAPGESEILDLDDELYLGGLPENKAGLVFPTE    561 - 630
VWTALLNYGYVGCIRDLFIDGQSKDIRQMAEVQSTAGVKPSCSKETAKPCLSNPCKNNGMCRDGWNRYVC    631 - 700
DCSGTGYLGRSCEREATVLSYDGSMFMKIQLPVVMHTEAEDVSLRFRSQRAYGILMATTSRDSADTLRLE    701 - 770
LDAGRVKLTVNLDCIRINCNSSKGPETLFAGYNLNDNEWHTVRVVRRGKSLKLTVDDQQAMTGQMAGDHT    771 - 840
RLEFHNIETGIITERRYLSSVPSNFIGHLQSLTFNGMAYIDLCKNGDIDYCELNARFGFRNIIADPVTFK    841 - 910
TKSSYVALATLQAYTSMHLFFQFKTTSLDGLILYNSGDGNDFIVVELVKGYLHYVFDLGNGANLIKGSSN    911 - 980
KPLNDNQWHNVMISRDTSNLHTVKIDTKITTQITAGARNLDLKSDLYIGGVAKETYKSLPKLVHAKEGFQ    981 - 1050
GCLASVDLNGRLPDLISDALFCNGQIERGCEGPSTTCQEDSCSNQGVCLQQWDGFSCDCSMTSFSGPLCN   1051 - 1120
DPGTTYIFSKGGGQITYKWPPNDRPSTRADRLAIGFSTVQKEAVLVRVDSSSGLGDYLELHIHQGKIGVK   1121 - 1190
FNVGTDDIAIEESNAIINDGKYHVVRFTRSGGNATLQVDSWPVIERYPAGRQLTIFNSQATIIIGGKEQG   1191 - 1260
QPFQGQLSGLYYNGLKVLNMAAENDANIAIVGNVRLVGEVPSSMTTESTATAMQSEMSTSIMETTTTLAT   1261 - 1330
STARRGKPPTKEPISQTTDDILVASAECPSDDEDIDPCEPSSGGLANPTRAGGREPYPGSAEVIRESSST   1331 - 1400
TGMVVGIVAAAALCILILLYAMYKYRNRDEGSYHVDESRNYISNSAQSNGAVVKEKQPSSAKSSNKNKKN   1401 - 1470
KDKEYYV                                                                  1471 - 1477
//

Text Mined References (114)

PMID Year Title
26785044 2016 Crystal Structure of an Engineered LRRTM2 Synaptic Adhesion Molecule and a Model for Neurexin Binding.
26590955 2016 Dual genetic diagnoses: Atypical hand-foot-genital syndrome and developmental delay due to de novo mutations in HOXA13 and NRXN1.
26410934 2015 [The Role of Neurotrophins and Neurexins Genes in the Risk of Paranoid Schizophrenia in Russians and Tatars].
26279266 2015 Human Neuropsychiatric Disease Modeling using Conditional Deletion Reveals Synaptic Transmission Defects Caused by Heterozygous Mutations in NRXN1.
26078884 2015 Neurexin-Neuroligin Synaptic Complex Regulates Schizophrenia-Related DISC1/Kal-7/Rac1 "Signalosome".
25943950 Resequencing and association analysis of coding regions at twenty candidate genes suggest a role for rare risk variation at AKAP9 and protective variation at NRXN1 in schizophrenia susceptibility.
25737549 2015 Systematic discovery of regulated and conserved alternative exons in the mammalian brain reveals NMD modulating chromatin regulators.
25710691 2015 [Intragenic deletions of NRXN1: three new case reports and a review of the phenotype].
25486015 2015 A boy with dysmorphic features, intellectual disability, and biallelic homozygous deletion in NRXN1.
25450229 2015 The contribution of rare and common variants in 30 genes to risk nicotine dependence.
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